68551007: Limb reduction-ichthyosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome

\Skin AND/OR mucosa finding\Skin finding\...

\Rough skin\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Limb reduction-ichthyosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

113853015 Limb reduction-ichthyosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

808399014 Limb reduction-ichthyosis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Limb reduction-ichthyosis syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Is a	Congenital anomaly of limb	false	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Is a	Longitudinal deficiency of limb	true	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	2
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	2
Limb reduction-ichthyosis syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	2
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	2
Limb reduction-ichthyosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	2
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Limb reduction-ichthyosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	4
Limb reduction-ichthyosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	4
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormal shortening	false	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormal shortening	true	Inferred relationship	Existential restriction modifier	2
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Limb reduction-ichthyosis syndrome	Finding site	Entire limb	true	Inferred relationship	Existential restriction modifier	2
Limb reduction-ichthyosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Limb reduction-ichthyosis syndrome	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	3
Limb reduction-ichthyosis syndrome	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	1
Limb reduction-ichthyosis syndrome	Is a	Congenital deformity	false	Inferred relationship	Existential restriction modifier
Limb reduction-ichthyosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
113853015	Limb reduction-ichthyosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
808399014	Limb reduction-ichthyosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module